Leveraging genetic laboratories in rare disease patient identification

Patient identification in rare disease

‘Needle in a haystack’ is a common analogy for clinical researchers looking for the right patients to enroll in a study, but in rare and ultra-rare indications, it can feel closer to finding a snowflake in a snowstorm.  

Rare disease researchers need every possible tool to help drive patient identification and recruitment. For certain rare indications, collaborating with genetic laboratories can provide a much-needed boost to patient identification. In this article, we discuss ways to leverage these laboratories to help increase success rates and drive efficient and effective rare disease patient recruitment.

Identifying Genetic Laboratories for Rare Disease Studies

Beyond testing capabilities, finding laboratories that can support patient recruitment patients should be a top priority. Consider the following for your next rare disease study: 

• Identify what type of lab would analyze the test in question, whether that be a genetic laboratory, specialty laboratory, or clinical laboratory. Then, search for labs in the targeted enrollment regions. 
• To identify patients with genetic mutations, look for labs that test for that specific gene. Key Opinion Leaders for rare diseases can often help you identify appropriate labs, allowing you to expand your search from there, pending your study’s patient count and country needs. 
• Once a lab is identified, contact them directly. You can inquire about the test in question via general inquiry forms on their website or through the laboratory’s Business Development division.  
  
  

Partnering with Genetic Laboratories for Patient Identification 

After you have identified a few genetic laboratories in the countries or regions you are targeting and have confirmed they have the genetic test in question, it’s time to engage. Keep the following steps in mind as you do so: 

• Since you are looking for help in identifying potential patients, it is essential to confirm how often the laboratory runs the specific test during the introductory meeting. If they don’t receive orders for this test often, it may not be a fruitful endeavor.  
• Ask the laboratory if they can confirm in their database the number of tests they’ve run for that target during the previous 6 to 12 months. 
• Once this information is obtained, inquire about the laboratory’s process for raising awareness of clinical trials for a specific indication. Can they provide a cover letter and an information sheet about the study to the ordering physician?  
• If the lab can support clinical trial awareness as described above, what is the cost for their assistance?  
• Finally, if they send a letter, is any additional follow-up conducted with the ordering physician? Discuss the parameters of this to ensure the best result possible from such outreach.
  
  

The Challenges of Rare Research 

The rarity of certain diseases can make identifying patients for trials a challenge. At times, indications have no associated patient advocacy group, particularly if the disease is relatively new—a notable obstacle to efficient and effective patient recruitment.  

The use of existing databases or laboratory panels can help lead to the enrollment of previously diagnosed or newly diagnosed patients. Pending the rare disease, you are targeting, genetic laboratories can help you navigate the haystack (or snowstorm) and find the patients you need for a successful study start. 

Why Partner with a Rare Disease CRO? 

Rare disease clinical research is a high-stakes and high-complexity environment. Precision for Medicine thrives amidst the nuances of this landscape thanks to our significant experience across nearly 100 rare indications. From breaking new ground to helping sponsors pioneer studies in rare diseases yet to be clinically studied, we take great pride in our ability to make a meaningful difference. 

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